Rabbit anti-Human SCN8A Polyclonal Antibody | anti-SCN8A antibody

SCN8A Antibody

Cat. Num. AAA7045643

• Gene Names: SCN8A; MED; PN4; CIAT; BFIS5; NaCh6; CERIII; EIEE13; Nav1.6
• Reactivity: Human
• Applications: ELISA, Immunohistochemistry
• Purity: Antigen Affinity Purified
• Synonyms: SCN8A; Polyclonal Antibody; SCN8A Antibody; Sodium channel protein type 8 subunit alpha; Sodium channel protein type VIII subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.6; MED; anti-SCN8A antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 1939

• Applicable Applications for anti-SCN8A antibody: ELISA (EIA), Immunohistochemistry (IHC)
• Application Notes: Recommended dilution: IHC: 1:20-1:200
• Species: Human
• Immunogen: Recombinant human Sodium channel protein type 8 subunit alpha protein (1350-1440AA)
• Conjugate: Non-conjugated
• Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
• Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-168694
• Preparation and Storage: Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human brain tissue using MBS7045643 at dilution 1:100)

Related Product Information for anti-SCN8A antibody

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.

NCBI and Uniprot Product Information

• NCBI GI #: 295789135
• NCBI GeneID: 6334
• NCBI Accession #: NP_001171455.1
• NCBI GenBank Nucleotide #: NM_001177984.2
• UniProt Accession #: Q9UQD0; O95788; Q9NYX2; Q9UPB2; B9VWG8
• Molecular Weight: 220,798 Da
• NCBI Official Full Name: sodium channel protein type 8 subunit alpha isoform 2
• NCBI Official Synonym Full Names: sodium voltage-gated channel alpha subunit 8
• NCBI Official Symbol: SCN8A
• NCBI Official Synonym Symbols: MED; PN4; CIAT; BFIS5; NaCh6; CERIII; EIEE13; Nav1.6
• NCBI Protein Information: sodium channel protein type 8 subunit alpha
• UniProt Protein Name: Sodium channel protein type 8 subunit alpha
• Protein Family: Sodium channel protein
• UniProt Gene Name: SCN8A
• UniProt Synonym Gene Names: MED
• UniProt Entry Name: SCN8A_HUMAN

NCBI Description

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Uniprot Description

SCN8A: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation. Defects in SCN8A are the cause of cognitive impairment with or without cerebellar ataxia (CIAT). A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. Defects in SCN8A are the cause of epileptic encephalopathy, early infantile, type 13 (EIEE13). A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Channel, sodium

Chromosomal Location of Human Ortholog: 12q13

Cellular Component: integral to membrane; plasma membrane; voltage-gated sodium channel complex; Z disc

Molecular Function: voltage-gated sodium channel activity

Biological Process: generation of action potential; myelination; nervous system development; peripheral nervous system development

Disease: Cognitive Impairment With Or Without Cerebellar Ataxia; Epileptic Encephalopathy, Early Infantile, 13